Why It Is So Often Missed
Reviewed by CDE Mehandi Sharma · Updated
Monogenic diabetes is consistently underdiagnosed. Understanding why is practically useful, because in most cases the diagnosis only happens if someone thinks to ask the question.
It looks like the common types. People with monogenic diabetes may be misdiagnosed with Type 1 or Type 2 because the symptoms are similar. A young person with diabetes gets called Type 1; an adult gets called Type 2. Both labels fit approximately, so nobody looks further.
Nobody looks for something rare. At 1 to 5 in every 100 people with diabetes, most doctors will see very few cases. A condition that uncommon is not the first thought in a busy clinic.
The tests that would raise suspicion are not routine. Autoantibody and C-peptide testing are what suggest the diabetes is neither autoimmune nor insulin-resistant, and neither is done as standard in most Indian settings.
Genetic testing costs money and awareness is limited. Cost, patchy insurance coverage, and limited familiarity among clinicians all slow it down.
And it usually causes no crisis. Someone whose diabetes is mild and stable on the treatment they were given has no obvious reason to be re-investigated, so years pass.
The practical response is that patients and families often have to raise it. Knowing the clues is what gets the conversation started.